Cerebellar hypoplasia can arise due to genetic factors or other conditions. The outlook for people with cerebellar hypoplasia varies according to the condition’s severity and the underlying cause.

Cerebellar hypoplasia is a neurological condition that affects the cerebellum, a part of the brain that coordinates movement. In people with cerebellar hypoplasia, the cerebellum is smaller than it should be and may be underdeveloped.

This article provides an overview of cerebellar hypoplasia. It looks at the symptoms and causes of this condition before discussing how doctors diagnose and treat it. The article also details the outlook for people with cerebellar hypoplasia and support options for their carers.

Information for caregivers

As a person’s condition progresses, they may need help reading or understanding information regarding their circumstances. This article contains details that may help caregivers identify and monitor symptom progression, side effects of drugs, or other factors relating to the person’s condition.

Was this helpful?
Healthcare professional holding brain scansShare on Pinterest
Ron Levine/Getty Images

According to the National Institutes of Neurological Disorders and Stroke (NINDS), cerebellar hypoplasia can present in several different ways, which vary depending on the age at which the condition develops.

In infancy or early childhood

If cerebellar hypoplasia develops in infancy or early childhood, it can cause the following symptoms:

In later childhood

Cerebellar hypoplasia may present with the following symptoms if it develops in later childhood:

It is important for parents or caregivers to ensure a child with any of the above symptoms receives medical attention.

There are several different causes of cerebellar hypoplasia.

Genetic changes

The condition sometimes develops due to genetic changes, also called mutations.

According to a 2022 study, at least 26 different genes may lead to cerebellar hypoplasia if they undergo a change. These genes include:

  • ITPR1
  • KIF1A
  • APTX
  • ATM

Nongenetic causes

Scientists have also found that cerebellar hypoplasia can arise from nongenetic causes. These include:

According to a 2021 review, doctors mainly use neuroimaging techniques to diagnose cerebellar hypoplasia. These include MRI scans. Doctors use these imaging techniques to determine the size of a person’s cerebellum.

Doctors can also use genetic testing to make diagnoses. Such tests involve looking at an infant or child’s genetic material. This can allow doctors to detect genes that scientists know cause cerebellar hypoplasia.

The NINDS states that there is no standard course of treatment for cerebellar hypoplasia. Treatment options will vary depending on the severity and underlying cause of the condition.

Treatment for this condition often involves supportive measures. These aim to reduce the intensity of symptoms or help individuals to manage them. For instance, some forms of physiotherapy and movement therapy may help individuals with cerebellar hypoplasia.

Caregiving for someone with cerebellar hypoplasia can be challenging. It is important for caregivers to seek support if they feel they need it. This may involve reaching out to friends, family, and loved ones. It may also involve making time for self-care where possible.

The National Institutes of Health (NIH) lists organizations that may offer more specific forms of support to individuals who care for someone with cerebellar hypoplasia. These include the following groups:

Cerebellar hypoplasia is rare. As such, it is hard for doctors to determine the outlook for people with this condition.

Research suggests a person’s outlook can depend upon several factors. For instance, the NINDS states that when cerebellar hypoplasia occurs due to atypical fetal development, the outlook may be better for some people than others. This may happen if a person has cerebellar hypoplasia due to a condition that worsens over time.

Cerebellar hypoplasia can also cause atypical development of the cerebellum. There is evidence that the exact kind and degree of these variations in development can affect an individual’s outlook.

Cerebellar hypoplasia is a rare condition that affects the cerebellum, a small area of the brain that is extremely important for movement. The cerebellum is smaller than it should be in people with cerebellar hypoplasia.

This condition can arise due to genetic mutations or develop due to other conditions, such as premature birth or hemorrhage. Cerebellar hypoplasia can cause limp muscles, movement difficulties, and seizures.

The treatment options and a person’s outlook will depend on the condition’s underlying cause and severity.